scholarly journals VP16.17: First trimester diagnosis of Meckel–Gruber syndrome by fetal ultrasound

2021 ◽  
Vol 58 (S1) ◽  
pp. 168-168
Author(s):  
G. Soro ◽  
M. Monclús ◽  
C. Gras ◽  
M. Álvarez‐Mora ◽  
L. Rodriguez‐Revenga ◽  
...  
2016 ◽  
Vol 19 (3) ◽  
pp. 73-77
Author(s):  
Mărginean Claudiu ◽  
◽  
Pușcașiu Lucian ◽  
Molnar Varlam Claudiu ◽  
Rugină Cosmin ◽  
...  

Parvovirus B19 belongs to the Parvoviridae family, Erythrovirus type, and it presents cytotoxicity on the erythroblast human line leading to severe anemia. We present the case of a 35-year-old woman, at the 3rd pregnancy, with a first trimester abortion in her history and a physiological birth, who presented to the specialty check-up at 20 gestational weeks, associating the signs of a respiratory infection, without any other pathologies until this gestational age. The laboratory tests and the fetal ultrasound did not point out any pathological elements, therefore the patient was sent home with the recommendation to come back after 2 weeks for reevaluation, when the fetal ultrasound revealed fetal hydrops and severe anemia, and after 24 hours fetal asystole. Maternal serology pointed out recent infection with Parvovirus B19. The particularity of this case consists in the appearance of relative rare fetal infection in the second trimester of pregnancy in the case of a physiological, monitored pregnancy, with unfavorable prognosis and fulminant death towards intrauterine death.


2014 ◽  
Vol 58 (8) ◽  
pp. 4392-4398 ◽  
Author(s):  
Stephanie Padberg ◽  
Evelin Wacker ◽  
Reinhard Meister ◽  
Mary Panse ◽  
Corinna Weber-Schoendorfer ◽  
...  

ABSTRACTFluoroquinolones are avoided during pregnancy due to developmental toxicity in animals. The aim of this study was to assess the fetal risk after intrauterine fluoroquinolone exposure. We performed an observational study of a prospectively ascertained cohort of pregnant women exposed to a fluoroquinolone during the first trimester. Pregnancy outcomes were compared to those of a cohort exposed to neither fluoroquinolones nor teratogenic or fetotoxic drugs. The outcomes evaluated were major birth defects (structural abnormalities of medical, surgical, or cosmetic relevance), spontaneous abortion, and elective termination of pregnancy. Pregnancy outcomes of 949 women with fluoroquinolone treatment were compared with those of 3,796 nonexposed controls. Neither the rate of major birth defects (2.4%; adjusted odds ratio [ORadj], 0.91; 95% confidence interval [CI], 0.6 to 1.5) nor the risk of spontaneous abortion (adjusted hazard ratio [HRadj], 1.01; 95% CI, 0.8 to 1.3) was increased. However, there was a nonsignificant increase in major birth defects after exposure to moxifloxacin (6/93, 6.5%; crude odds ratio [ORcrude], 2.40; 95% CI, 0.8 to 5.6). Neither a critical exposure time window within the first trimester nor a specific pattern of birth defects was demonstrated for any of the fluoroquinolones. The rate of electively terminated pregnancies was increased among the fluoroquinolone-exposed women (HRadj, 1.32; 95% CI, 1.03 to 1.7). The gestational ages at delivery and birth weights did not differ between groups. Our study did not detect an increased risk of spontaneous abortion or major birth defects. These reassuring findings support the recommendation to allow fluoroquinolone use in early pregnancy in selected cases. After the use of moxifloxacin, a detailed fetal ultrasound examination should be considered.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
N. Fries ◽  
F. Dhombres ◽  
M. Massoud ◽  
J. J. Stirnemann ◽  
R. Bessis ◽  
...  

Abstract Background The impact of using the Intergrowth (IG) dating formulae in comparison to the commonly used Robinson dating on the evaluation of biometrics and estimated fetal weight (EFW) has not been evaluated. Methods Nationwide cross-sectional study of routine fetal ultrasound biometry in low-risk pregnant women whose gestational age (GA) had been previously assessed by a first trimester CRL measurement. We compared the CRL-based GA according to the Robinson formula and the IG formula. We evaluated the fetal biometric measurements as well as the EFW taken later in pregnancy depending on the dating formula used. Mean and standard deviation of the Z scores as well as the number and percentage of cases classified as <3rd, < 10th, >90th and > 97th percentile were compared. Results Three thousand five hundred twenty-two low-risk women with scans carried out after 18 weeks were included. There were differences of zero, one and 2 days in 642 (18.2%), 2700 (76.7%) and 180 (5%) when GA was estimated based on the Robinson or the IG formula, respectively. The biometry Z scores assessed later in pregnancy were all statistically significantly lower when the Intergrowth-based dating formula was used (p < 10− 4). Likewise, the number and percentage of foetuses classified as <3rd, < 10th, >90th and > 97th percentile demonstrated significant differences. As an example, the proportion of SGA foetuses varied from 3.46 to 4.57% (p = 0.02) and that of LGA foetuses from 17.86 to 13.4% (p < 10− 4). Conclusion The dating formula used has a quite significant impact on the subsequent evaluation of biometry and EFW. We suggest that the combined and homogeneous use of a recent dating standard, together with prescriptive growth standards established on the same low-risk pregnancies, allows an optimal assessment of fetal growth.


Author(s):  
Shahnoza Kamalidinova

To study defects and chromosomal abnormalities of the fetus, we retrospectively analyzed results of comprehensive dynamic survey of 26,404 pregnant women aged 18-50 years old at 6 to 40 weeks of pregnancy. Of them, 25,956 (98.3%) women had physiological course of pregnancy, 448 (1.7%) women had abnormal pregnancy. For the diagnosis of fetal defects, we carried out ultrasound, biochemical, invasive and cytogenetic studies. The results of study showed that the majority of fetal defects and pathological course of pregnancy was noted in women at the age of 21-25 years old, since at this age period women have the highest number of pregnancies. At the older age, we noted a gradual decrease in the number of pregnant women, as well as the number of abnormalities of the fetus. Based on the analysis of the results obtained, we have developed an algorithm for early fetal ultrasound examination. In order to exclude non-developing pregnancy and intrauterine fetal death, as well as for early diagnosis of fetal defects, we recommend screening women in the first trimester of pregnancy.


2014 ◽  
Vol 112 (12) ◽  
pp. 2018-2027 ◽  
Author(s):  
Bright I. Nwaru ◽  
Helen Hayes ◽  
Lorraine Gambling ◽  
Leone C. A. Craig ◽  
Keith Allan ◽  
...  

Maternal nutritional status during pregnancy has been reported to be associated with childhood asthma and atopic disease. The Avon Longitudinal Study of Parents and Children has reported associations between reduced umbilical cord Fe status and childhood wheeze and eczema; however, follow-up was short and lung function was not measured. In the present study, the associations between maternal Fe status during pregnancy and childhood outcomes in the first 10 years of life were investigated in a subgroup of 157 mother–child pairs from a birth cohort with complete maternal, fetal ultrasound, blood and child follow-up data. Maternal Fe intake was assessed using FFQ at 32 weeks of gestation and Hb concentrations and serum Fe status (ferritin, soluble transferrin receptor and TfR-F (transferrin receptor:ferritin) index) were measured at 11 weeks of gestation and at delivery. Maternal Fe intake, Hb concentrations and serum Fe status were found to be not associated with fetal or birth measurements. Unit increases in first-trimester maternal serum TfR concentrations (OR 1·44, 95 % CI 1·05, 1·99) and TfR-F index (OR 1·42, 95 % CI 1·10, 1·82) (i.e. decreasing Fe status) were found to be associated with an increased risk of wheeze, while unit increases in serum ferritin concentrations (i.e. increasing Fe status) were found to be associated with increases in standardised mean peak expiratory flow (PEF) (β 0·25, 95 % CI 0·09, 0·42) and forced expiratory volume in the first second (FEV1) (β 0·20, 95 % CI 0·08, 0·32) up to 10 years of age. Increasing maternal serum TfR-F index at delivery was found to be associated with an increased risk of atopic sensitisation (OR 1·35, 95 % CI 1·02, 1·79). The results of the present study suggest that reduced maternal Fe status during pregnancy is adversely associated with childhood wheeze, lung function and atopic sensitisation, justifying further studies on maternal Fe status and childhood asthma and atopic disease.


2011 ◽  
Vol 25 (7) ◽  
pp. 1029-1033 ◽  
Author(s):  
Ioannis Papastefanou ◽  
Athena Souka ◽  
Makarios Eleuftheriades ◽  
Athanasios Pilalis ◽  
Demetrios Kassanos

2014 ◽  
Vol 2014 ◽  
pp. 1-2
Author(s):  
Yusuf Cem Kaplan ◽  
Nihal Olgac Dündar ◽  
Burcu Kasap ◽  
Barıs Karadas

To the best of our knowledge this is the first case report describing exposure to varenicline, anα4β2nicotinic acetylcholine partial receptor agonist used for smoking cessation therapy in pregnancy. A 29-year-old multiparous woman with an unplanned pregnancy has used varenicline 2 mg/day unintentionally yet regularly 4 weeks from her last menstrual period. Fetal ultrasound performed at each trimester, detailed anomaly scan, and fetal echocardiography which were performed at the 22nd gestational week showed normal fetal growth with no malformations. The patient delivered a healthy baby at the 38th week of gestation with normal Apgar score and physical examination findings. Age-appropriate physical and neurological development of the child has been observed for 6 months. Although it is not possible to draw definitive conclusions, this case report may contribute to the current available limited data regarding the safety of varenicline use in pregnancy.


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